RGD:13470786 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:13470786 -  Homo sapiens

RGD ID: 13470786
RS ID: rs1276313619
ClinVar ID: CV475022
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127459902  NBN  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 90,996,792
GRCh38 8 89,984,564
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_158t1:c.-3C>G
NC_000008.11:g.89984564G>C
NC_000008.10:g.90996792G>C
NM_002485.5:c.-3C>G
More...
07/21/2016 5 prime utr variant uncertain significance Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NBN
Accession:NM_002485
Location:5UTRS;EXON

Gene Symbol:NBN
Accession:NM_001024688
Location:5UTRS;EXON

Gene Symbol:NBN
Accession:XM_011517046
Location:5UTRS;EXON

Gene Symbol:NBN
Accession:XM_047421796
Location:5UTRS;EXON

Gene Symbol:NBN
Accession:XM_011517045
Location:INTRON

Gene Symbol:NBN
Accession:XM_024447163
Location:INTRON

Gene Symbol:NBN
Accession:XM_047421795
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000563470 CLINVAR
dbSNP (RS) rs1276313619 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene NBN CLINVAR
OMIM 602667 CLINVAR
SNOMED CT 699346009 CLINVAR